Canonical Allele Identifier: CA792325269

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1333593596
• gnomAD v3: 4-186205026-C-CAG
• gnomAD v4: 4-186205026-C-CAG
• MyVariant Identifiers: chr4:g.187126180_187126181insAG (hg19) ; chr4:g.186205026_186205027insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205027_186205028dup , CM000666.2:g.186205027_186205028dup	GRCh38
NC_000004.11:g.187126181_187126182dup , CM000666.1:g.187126181_187126182dup	GRCh37
NC_000004.10:g.187363175_187363176dup	NCBI36
NG_007965.1:g.18508_18509dup
NG_012095.2:g.1049_1050dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.988-173_988-172dup MANE Select	ENSP00000368079.4:n.988-173_988-172dup
ENST00000378802.4:c.988-173_988-172dup	ENSP00000368079.4:n.988-173_988-172dup
ENST00000502665.1:n.191_192dup
ENST00000507209.5:n.5513_5514dup
ENST00000513354.5:n.78-173_78-172dup
NM_207352.3:c.988-173_988-172dup	NP_997235.3:n.988-173_988-172dup
XM_005262935.2:c.988-173_988-172dup	XP_005262992.1:n.988-173_988-172dup
XM_006714184.2:c.592-173_592-172dup	XP_006714247.1:n.592-173_592-172dup
XM_005262935.4:c.988-173_988-172dup	XP_005262992.1:n.988-173_988-172dup
XM_017008037.1:c.592-173_592-172dup	XP_016863526.1:n.592-173_592-172dup
NM_207352.4:c.988-173_988-172dup MANE Select	NP_997235.3:n.988-173_988-172dup